Unes quantes demostracions de química espectaculars i útils

A l'article es presenten experiències pràctiques de química que he utilitzat a les meves classes com a professor de secundària d'alumnes suïssos de disset i divuit anys. Les reaccions i la manera de presentar-les a l'alumnat exposades en aquest treball m'han demostrat que són útils per a l'aprenentatge de la química i que motiven els alumnes. Aquests havien de fer les reaccions, anotar les seves observacions i fer càlculs de determinades quantitats. A l'article es mostren també les respostes esperades de l'alumnat.Some spectacular and useful demonstrations of chemistry. In this article, practical chemistry experiences which I implemented in my upper-secondary classes in Switzerland are presented. The chemical reactions described in this work and the way of presenting them to students, have shown to be useful and help to motivate students to learn chemistry. Pupils had to make the reactions, take notes of their observations and calculate some quantities. In this paper the students’ expected answers are presented

Real-time software for mobile robot simulation and experimentation in cooperative environments

Trabajo presentado al 1st SIMPAR celebrado en Venecia del 3 al 6 de noviembre de 2008.This paper presents the software being developed at IRI (Institut de Robotica i Informatica Industrial) for mobile robot autonomous navigation in the context of the European project URUS (Ubiquitous Robots in Urban Settings). In order that a deployed sensor network and robots operating in the environment cooperate in terms of information sharing, main requirements are real-time performance and the integration of information coming from remote machines not onboard the robot. Moreover, the project involves a group of eleven industrial and academic partners, therefore software integration issues are critical. The proposed software framework is based on the YARP middleware and has been tested in real and simulated experiments.This work was supported by projects: 'Ubiquitous networking robotics in urban settings' (E-00938), 'CONSOLIDER-INGENIO 2010 Multimodal interaction in pattern recognition and computer vision' (V-00069), 'Robotica ubicua para entornos urbanos' (J-01225). Partially supported by Consolider Ingenio 2010, project CSD2007-00018, CICYT project DPI2007-61452, and IST-045062 of the European Community Union.Peer Reviewe

Factores claves de éxito y proyección internacional del International Journal of Educational Technology in Higher Education (ETHE)

Factores clave de éxito y proyección internacional del International Journal of Educational Technology in Higher Education (ETHE): co-edición internacional, acceso abierto y edición profesional.Universitat Oberta de Catalunya, Universidad de los Andes

Polysomy of chromosome 17 in breast cancer tumors showing an overexpression of ERBB2: a study of 175 cases using fluorescence in situ hybridization and immunohistochemistry

INTRODUCTION: One of the most common genetic aberrations associated with breast cancer is the amplification and overexpression of the ERBB2 proto-oncogene located at chromosome 17, bands q12-21. The amplification/overexpression occurs in 25 to 30% of all breast cancers. In breast cancer, aneusomy of chromosome 17, either monosomy or polysomy, is frequently observed by conventional cytogenetics and fluorescence in situ hybridization (FISH). The aim of this study was to discover whether or not numerical aberrations on chromosome 17 have a correlation to the amplification or overexpression of the ERBB2 gene and to analyze their clinical implications in subgroups showing 2+ or 3+ positive scores by immunohistochemistry (IHC). METHODS: We used FISH on a series of 175 formalin-fixed paraffin-embedded breast carcinomas to detect ERBB2 amplification, using a dual-probe system for the simultaneous enumeration of the ERBB2 gene and the centromeric region of chromosome 17, as well as using IHC to detect overexpression. We analyzed clinical and pathological variables in a subgroup of patients with 2+ and 3+ IHC scores (147 patients), to describe any differences in clinicopathological characteristics between polysomic and non-polysomic cases with the use of the χ(2 )test. RESULTS: We found 13% of cases presenting polysomy, and three cases presented monosomy 17 (2%). According to the status of the ERBB2 gene, instances of polysomy 17 were more frequently observed in non-amplified cases than in FISH-amplified cases, suggesting that the mechanism for ERBB2 amplification is independent of polysomy 17. Polysomy 17 was detected in patients with 2+ and 3+ IHC scores. We found that nodal involvement was more frequent in polysomic than in non-polysomic cases (P = 0.046). CONCLUSIONS: The determination of the copy number of chromosome 17 should be incorporated into the assesment of ERBB2 status. It might also be helpful to differentiate a subgroup of breast cancer patients with polysomy of chromosome 17 and overexpression of ERBB2 protein that probably have genetic and clinical differences

Fusion of the human gene for the polyubiquitination coeffector UEV1 with Kua, a newly identified gene

UEV proteins are enzymatically inactive variants of the E2 ubiquitin-conjugating enzymes that regulate noncanonical elongation of ubiquitin chains. In Saccharomyces cerevisiae, UEV is part of the RAD6-mediated error-free DNA repair pathway. In mammalian cells, UEV proteins can modulate c-FOS transcription and the G2-M transition of the cell cycle. Here we show that the UEV genes from phylogenetically distant organisms present a remarkable conservation in their exon-intron structure. We also show that the human UEV1 gene is fused with the previously unknown geneKua. In Caenorhabditis elegans and Drosophila melanogaster, Kua and UEV are in separated loci, and are expressed as independent transcripts and proteins. In humans,Kua and UEV1 are adjacent genes, expressed either as separate transcripts encoding independent Kua and UEV1 proteins, or as a hybrid Kua-UEV transcript, encoding a two-domain protein. Kua proteins represent a novel class of conserved proteins with juxtamembrane histidine-rich motifs. Experiments with epitope-tagged proteins show that UEV1A is a nuclear protein, whereas both Kua and Kua-UEV localize to cytoplasmic structures, indicating that the Kua domain determines the cytoplasmic localization of Kua-UEV. Therefore, the addition of a Kua domain to UEV in the fused Kua-UEV protein confers new biological properties to this regulator of variant polyubiquitination

Surveilling the SARS -CoV-2 in sewage: the catalan case

Introduction. Shortly after the outbreak of the COVID-19 pandemic, scientists renewed their interest on the application of wastewater-based epidemiology (WBE) to track the communal circulation of SARS-CoV-2 through the quantification of its genetic traces in sewage. At national scale, such strategy was firstly implemented in The Netherlands in February 2020 and, following the Dutch example, similar sewage surveillance programs were later put into action by other countries at different scales and coverages. At the time of writing, 58 countries are currently monitoring the circulation of SARS-CoV-2 in wastewater as reported at the COVID-Poops19 website. The purpose of this work is to describe the roadmap for the implementation of a wastewater surveillance network at a national scale and to discuss the main challenges faced during its functioning. Material and methods. It should be noted that all data generated are free for scientific use, and it can be downloaded from a public repository at the Zenodo website. The database is weekly updated and contains all molecular data obtained from the samples analyzed. Results. In Catalonia, a Spanish region of 7,5 million inhabitants, the Public Health Agency of the Catalan government and the Catalan Water Agency promoted and funded the implementation of the Catalan Surveillance Network of SARSCoV-2 in Sewage (SARSAIGUA) to provide information on the circulation of SARSCoV-2 at community level that complement epidemiological & clinical data. SARSAIGUA started in 2020 by monitoring 56 WWTPs that assist 193 municipalities, representing 80% of the Catalan population. Within less than 72 hours, weekly samples are collected, analyzed, and results reported to Health authorities and finally published in an on-line dashboard. After 19 months of monitoring, the normalized daily loads of SARS-CoV-2 genes in the 56 WWTPs monitored, fairly matched the sum of COVID-19 cases along the successive pandemic waves. Moreover, a good fit was obtained between the aggregated viral load (gen copies/day/100.000 inhabitants) and the epidemiological evolution of diagnosed cases in the municipalities, served by the monitored WWTPs (rxy=0.59). In 2021, SARSAIGUA started the monitoring of SARS-CoV-2 variants by sequencing sewage samples every two weeks using Oxford nanopore technology and ARCTIC primers targeting the S gene. The deployment of this sequencing approach has allowed to track the introduction and spread of the Omicron variant and the concomitant wane of the Delta variant across the territory. Conclusions. Overall, and despite the difficulties and limitations associated to the inherent complexity of wastewater, the usefulness of WBE to rapidly detect viral transmission at community level is very helpful to Health authorities to better manage the pandemic situation. This is particularly relevant under the current scenario, where new emerging SARS-CoV-2 variants with higher fitness and transmission potential outcompete old ones in a weekly time scale. Acknowledgment. The research was realised in the JPIAMR projects: (PhageLand) – 22.80013.8007.1

FISH and immunohistochemical status of the hepatocyte growth factor receptor (c-Met) in 184 invasive breast tumors

Grants PI05/0961 and PI06/1513 from Ministerio de Sanidad y Consumo ISCIII and RTICC 06/0020/1

Exome chip analyses in adult attention deficit hyperactivity disorder

Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable childhood-onset neuropsychiatric condition, often persisting into adulthood. The genetic architecture of ADHD, particularly in adults, is largely unknown. We performed an exome-wide scan of adult ADHD using the Illumina Human Exome Bead Chip, which interrogates over 250 000 common and rare variants. Participants were recruited by the International Multicenter persistent ADHD CollaboraTion (IMpACT). Statistical analyses were divided into 3 steps: (1) gene-level analysis of rare variants (minor allele frequency (MAF)<1%); (2) single marker association tests of common variants (MAFgreater than or equal to1%), with replication of the top signals; and (3) pathway analyses. In total, 9365 individuals (1846 cases and 7519 controls) were examined. Replication of the most associated common variants was attempted in 9847 individuals (2077 cases and 7770 controls) using fixed-effects inverse variance meta-analysis. With a Bonferroni-corrected significance level of 1.82E−06, our analyses of rare coding variants revealed four study-wide significant loci: 6q22.1 locus (P=4.46E−08), where NT5DC1 and COL10A1 reside; the SEC23IP locus (P=6.47E−07); the PSD locus (P=7.58E−08) and ZCCHC4 locus (P=1.79E−06). No genome-wide significant association was observed among the common variants. The strongest signal was noted at rs9325032 in PPP2R2B (odds ratio=0.81, P=1.61E−05). Taken together, our data add to the growing evidence of general signal transduction molecules (NT5DC1, PSD, SEC23IP and ZCCHC4) having an important role in the etiology of ADHD. Although the biological implications of these findings need to be further explored, they highlight the possible role of cellular communication as a potential core component in the development of both adult and childhood forms of ADHD

Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing

Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder with a complex genetic background, hampering identification of underlying genetic risk factors. We hypothesized that combining linkage analysis and whole-exome sequencing (WES) in multi-generation pedigrees with multiple affected individuals can point toward novel ADHD genes. Three families with multiple ADHD-affected members (Ntotal = 70) and apparent dominant inheritance pattern were included in this study. Genotyping was performed in 37 family members, and WES was additionally carried out in 10 of those. Linkage analysis was performed using multi-point analysis in Superlink Online SNP 1.1. From prioritized linkage regions with a LOD score ≥ 2, a total of 24 genes harboring rare variants were selected. Those genes were taken forward and were jointly analyzed in gene-set analyses of exome-chip data using the MAGMA software in an independent sample of patients with persistent ADHD and healthy controls (N = 9365). The gene-set including all 24 genes together, and particularly the gene-set from one of the three families (12 genes), were significantly associated with persistent ADHD in this sample. Among the latter, gene-wide analysis for the AAED1 gene reached significance. A rare variant (rs151326868) within AAED1 segregated with ADHD in one of the families. The analytic strategy followed here is an effective approach for identifying novel ADHD risk genes. Additionally, this study suggests that both rare and more frequent variants in multiple genes act together in contributing to ADHD risk, even in individual multi-case families